The Identification of Alpha-Synuclein as the First Parkinson Disease Gene

por Nussbaum, Robert L.
Publicado 2017

Genetics in mainstream medicine: Finally within grasp to influence healthcare globally

por Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2018

X-inactivation analysis of embryonic lethality in Ocrl(wt/−);Inpp5b(−/−) mice

por Bernard, David J., Nussbaum, Robert L.
Publicado 2010

Prolongation of chemically-induced methemoglobinemia in mice lacking α-synuclein: A novel pharmacologic and toxicologic phenotype

por Kuo, Yien-Ming, Nussbaum, Robert L.
Publicado 2015

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

por Bothwell, Susan P., Farber, Leslie W., Hoagland, Adam, Nussbaum, Robert L.
Publicado 2010

Genetic Testing Before Anticoagulation? A Systematic Review of Pharmacogenetic Dosing of Warfarin

por Kangelaris, Kirsten Neudoerffer, Bent, Stephen, Nussbaum, Robert L., Garcia, David A., Tice, Jeffrey A.
Publicado 2009

Sources of discordance among germ-line variant classifications in ClinVar

por Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Publicado 2017

Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar

por Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Publicado 2017

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

por Truty, Rebecca, Paul, Joshua, Kennemer, Michael, Lincoln, Stephen E., Olivares, Eric, Nussbaum, Robert L., Aradhya, Swaroop
Publicado 2018

Prioritizing genes for systematic variant effect mapping

por Kuang, Da, Truty, Rebecca, Weile, Jochen, Johnson, Britt, Nykamp, Keith, Araya, Carlos, Nussbaum, Robert L, Roth, Frederick P
Publicado 2020

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

por Schmidlen, Tara J., Bristow, Sara L., Hatchell, Kathryn E., Esplin, Edward D., Nussbaum, Robert L., Haverfield, Eden V.
Publicado 2022

Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits

por Nazareth, Shivani, Hayward, Laura, Simmons, Emilie, Snir, Moran, Hatchell, Kathryn E., Rojahn, Susan, Slotnick, Robert Nathan, Nussbaum, Robert L.
Publicado 2021

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories

por Lincoln, Stephen E., Yang, Shan, Cline, Melissa S., Kobayashi, Yuya, Zhang, Can, Topper, Scott, Haussler, David, Paten, Benedict, Nussbaum, Robert L.
Publicado 2017

Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework

por Tavtigian, Sean V., Greenblatt, Marc S., Harrison, Steven M., Nussbaum, Robert L., Prabhu, Snehit A., Boucher, Kenneth M., Biesecker, Leslie G.
Publicado 2018

Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation

por Truty, Rebecca, Ouyang, Karen, Rojahn, Susan, Garcia, Sarah, Colavin, Alexandre, Hamlington, Barbara, Freivogel, Mary, Nussbaum, Robert L., Nykamp, Keith, Aradhya, Swaroop
Publicado 2021

Underdiagnosis of Hereditary Colorectal Cancers Among Medicare Patients: Genetic Testing Criteria for Lynch Syndrome Miss the Mark

por Muller, Charles, Nielsen, Sarah M., Hatchell, Kathryn E., Yang, Shan, Michalski, Scott T., Hamlington, Barbara, Nussbaum, Robert L., Esplin, Edward D., Kupfer, Sonia S.
Publicado 2021

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance

por Steffensen, Annette Buur, Refaat, Marwan M., David, Jens-Peter, Mujezinovic, Amer, Calloe, Kirstine, Wojciak, Julianne, Nussbaum, Robert L., Scheinman, Melvin M., Schmitt, Nicole
Publicado 2015